SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1258107584 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1258130231 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS1258131141 EMC1 Health Risk Likely pathogenic Cerebellar atrophy, visual impairment
RS1258134795 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1258137892 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1258152646 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1258173126 NIPAL4 Health Risk Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS1258182460 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1258207620 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS1258210045 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1258231226 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1258245330 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1258256090 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1258276444 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1258284323 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1258289679 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS1258293482 HCN2 Health Risk Pathogenic Febrile seizures, familial
RS1258317232 CYP11B2 Health Risk Likely pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone methyloxidase type 2 deficiency
RS1258333672 F8 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS1258334813 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS1258346283 DOK7 Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS1258386028 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS1258387740 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1258394093 FLG Health Risk Pathogenic —
RS1258407314 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1258408605 IL11RA Health Risk Likely pathogenic Craniosynostosis and dental anomalies, Craniosynostosis and dental anomalies
RS1258442224 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1258446331 CARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS1258451850 OCA2 Health Risk Conflicting classifications of pathogenicity OCA2-related disorder, OCA2-related disorder
RS1258470290 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1258472160 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS1258476504 TP53RK Health Risk Conflicting classifications of pathogenicity TP53RK-related disorder, Galloway-Mowat syndrome 4
RS1258481099 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1258492758 TMEM67 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1258494852 ABL1 Health Risk Conflicting classifications of pathogenicity —
RS1258498548 NF1 Health Risk Pathogenic —
RS1258499665 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1258500319 CPLANE1 Health Risk Pathogenic —
RS1258500915 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1258502384 STAT2 Health Risk Pathogenic Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS1258526903 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1258544339 ENPP1 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Hypophosphatemic rickets
RS1258567486 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1258568007 SCP2 Health Risk Pathogenic —
RS1258569046 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Congenital cerebellar hypoplasia
RS1258583719 LRRK1 Health Risk Pathogenic Osteosclerotic metaphyseal dysplasia, Osteosclerotic metaphyseal dysplasia
RS1258590241 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1258594287 RP1 Health Risk Likely pathogenic —
RS1258608435 EXOSC3 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1258635215 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1258637670 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1258656410 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1258671706 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS1258714232 SLC26A4 Health Risk Likely pathogenic —
RS1258728780 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1258745040 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1258760779 PHIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1258766593 MYO5B Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1258767746 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1258793313 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS1258796672 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS1258811765 LOXHD1 Health Risk Likely pathogenic —
RS1258825907 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS1258851646 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS1258853212 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS1258857605 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS1258875883 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS1258879701 FANCE Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1258884250 NAXE Health Risk Likely pathogenic NAXE-related disorder, NAXE-related disorder
RS1258909652 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS1258929370 CPAP Health Risk Conflicting classifications of pathogenicity —
RS1258933474 GLMN Health Risk Likely pathogenic Glomuvenous malformation, Glomuvenous malformation
RS1258938703 NBN Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS1258953831 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1258991767 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1259009542 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1259016078 SPTA1 Health Risk Likely pathogenic —
RS1259026756 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1259027522 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS1259029761 NFE2L2 Health Risk Conflicting classifications of pathogenicity —
RS1259037195 COL11A2 Health Risk Pathogenic —
RS1259041590 EBF3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Hypotonia
RS1259072587 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1259081430 TALDO1 Health Risk Pathogenic Deficiency of transaldolase, Deficiency of transaldolase
RS1259084585 C8A Health Risk Pathogenic —
RS1259115799 USH2A Health Risk Pathogenic —
RS1259129289 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1259152241 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1259153475 COX15 Health Risk Likely pathogenic —
RS1259154169 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1259158687 SLC2A1 Health Risk Pathogenic Inborn genetic diseases, GLUT1 deficiency syndrome 1
RS1259173797 TMPRSS3 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS1259181312 DGAT1 Health Risk Likely pathogenic —
RS1259194902 ZNF469 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1259207198 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1259218629 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1259242831 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1259291325 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS1259294051 CUX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1259296823 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
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